G10C (p.Gly10Cys) variant of FMR1 (Q06787)
G10C (p.Gly10Cys) in FMR1 (Q06787) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.53 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
G10C (p.Gly10Cys) variant details
- p.Gly10Cys
- gnomAD X-147912207-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.531
- REVEL 0.42
- CADD 27.90
- PolyPhen-2 0.96
- SIFT 0.00
- Population evidence available
- Structural context available
- FMR1 K Homology domain, type 1 domainome 1.0: score -0.541
- Literature evidence available